| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | DYNC2I2, LOC126860772 (R330C) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | DYNC2I2, LOC126860772 (R283H) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Inversion (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
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